Saurav Guha

2PUBLICATIONS
95CO-AUTHORS
Neurology and neuromuscular diseasesGene expression (incl. microarray and other genome-wide approaches)
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Publications (2)

|May 16, 2025
Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption.

Caroline Nava, Benjamin Cogne, Amandine Santini

|Apr 09, 2022
Best practices for the interpretation and reporting of clinical whole genome sequencing.

Christina A Austin-Tse, Vaidehi Jobanputra, Denise L Perry

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Frequent Collaborators

1 joint publications

Christina A Austin-Tse

1 joint publications

Vaidehi Jobanputra

1 joint publications

David Bick

1 joint publications

Ted Young